Allele Registry

Canonical Allele Identifier: PA228194

Gene: UMPS HGNC NCBI

ClinVar Allele:

106004

ClinVar RCV:

RCV000086510

RCV000247148

RCV000306897

RCV001522005

ClinVar Variation:

100127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000364.1:p.Gly213Ala	CA228193 NM_000373.3:c.638G>C